Chuck Bednar for redOrbit.com – @BednarChuck
A landmark DNA study in Iceland has resulted in an unprecedented look at an entire country’s genetic makeup, discovering several previously unknown mutations that could cause a vast array of different health problems, but regulations prevent some of that data from being used.
According to the New York Times, scientists from Reykjavík-based DeCode Genetics were able to sequence the complete genomes of thousands of Icelanders, the largest group ever analyzed in a single population. The research helped them identify genetic mutations that could play a role in the development of conditions such as Alzheimer’s disease, heart disease and gallstones.
The results of their work have been published in the journal Nature. Daniel G. MacArthur, a Massachusetts General Hospital geneticist who was not involved in the project, said that it was “amazing work” and told the newspaper that DeCode has “managed to get more genetic data on a much larger chunk of the population than in any other country in the world.”
Valuable, un-shareable information
Using the information from the study, the scientists said they were able to infer the genomes of at least one third of the country’s population, and DeCode founder and CEO Kári Stefánsson told MIT Technology Review that using the data, he was able to identify all of the people living in Iceland who are at risk of developing a deadly cancer.
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The only problem is: He can’t do anything about it.
Stefánsson said that DeCode’s data can currently identify about 2,000 people that have the gene BRCA, which is susceptible to mutations that can drastically increase breast and ovarian cancer risk. He added that the company is currently in negotiations with health authorities in regards to whether or not those members of the public can or should be informed of the risk.
“We could save these people from dying prematurely, but we are not, because we as a society haven’t agreed on that,” Stefánsson said. “I personally think that not saving people with these mutations is a crime. This is an enormous risk to a large number of people.”
Why so much red tape?
The ethical issues arise from the fact that at least some of the people identified as being at risk did not participate in the study and never gave their consent to any research. Officials at the Icelandic Ministry of Welfare told MIT that it had formed a special committee to oversee these types of “incidental” findings, and that new regulations would be proposed by year’s end.
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The techniques used by DeCode to predict people’s genes could be applied to any country, and could similarly be used to infer the genes of anyone, whether or not they had agreed to be part of such research, Stefánsson explained. Iceland was chosen because of their detailed genealogical, but similar questions about reporting health hazards could arise in the US, UK or elsewhere.
“Various legal and ethical obstacles currently prevent DeCode from warning people who are at risk,” MIT reported. “Volunteers who signed up for DeCode’s studies were promised anonymity, and also that they wouldn’t learn of research findings. Bioethicists recognize that people have a right ‘not to know’ of genetic hazards, which means they can’t simply be told.”
“The rule is that you can only use and expose genetic data if you have the permission from the individual in question,” explained University of Iceland anthropologist Gísli Pálsson. “But this is beyond informed consent. People are not even in the studies, they haven’t submitted any consent or even a sample, yet the company claims to have knowledge about these people and that there is a health risk.”
Finding BRCA2 with the click of a button
Women that possess the BRCA2 mutation have a life expectancy of 12 years less than those who lack the mutation, because roughly 86 percent of those that have it will develop cancer, noted MIT. Men can also be affected by the mutation, which can increase their risk of prostate cancer, and DeCode noted that many of those deaths could be avoided by preventive surgery.
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Stefánsson said that they could find all of the women with the BRCA2 mutation “at the push of a button,” and that the data could also predict which members of the population could be most at risk of neurodegenerative conditions such as Alzheimer’s or learning disabilities.
By taking the data they have collected, generating rough gene maps known as genotypes and combining it with genealogical tables, the company was able to “impute” the genomes of nearly all people of Icelandic decent – with or without their permission. Sean Harper, the head of R&D at DeCode’s parent company Amgen, said that this ability presents a “conundrum.”
“It’s a gray area from a bioethics perspective, but we would be inclined to provide the data or at least a notice,” he explained, adding that Amgen, which uses information from DeCode to guide its pharmaceutical research, had no intention of charging anybody for the risk information it had developed. “It would not be appropriate [to] try to make it a commercial process,” he said.
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